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Gene

GDF5

growth differentiation factor 5

Summary

Cytogenetic location
20q11.22
Coordinates
Chromosome 20: 35,433,347–35,438,228 (GRCh38)
Exons
2 exons across 4.9 kb
Protein
501 amino acids
Also known as
CDMP1, BMP14
MANE Select transcript
ENST00000374369.8NM_000557.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Achondrogenesis panel

    • Achondrogenesis

      Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

      • 2 GenCC submitters rate it definitive or strong

How GDF5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 20, with a bracket where GDF5 sits. GDF5 and 22 genes near it on chromosome 20, from 34,935,788 to 35,935,787.Chromosome 2020q11.22p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3335 Mb35.2 Mb35.4 Mb35.6 Mb35.8 MbGSS: 34,928,432–34,956,027, reverse strandGSSMYH7B: 34,955,810–35,002,440, forward strandMYH7BTRPC4AP: 34,995,209–35,092,868, reverse strandTRPC4APEDEM2: 35,113,122–35,147,404, reverse strandEDEM2PROCR: 35,153,330–35,216,253, forward strandPROCRMMP24OS: 35,201,745–35,278,131, reverse strandMMP24: 35,226,559–35,277,030, forward strandMMP24: 35,267,885–35,280,043, reverse strandEIF6: 35,278,891–35,285,009, reverse strandEIF6SACK1C: 35,285,731–35,292,425, reverse strandSACK1CUQCC1: 35,301,219–35,412,070, reverse strandUQCC1GDF5: 35,433,347–35,438,228, reverse strandGDF5CEP250: 35,455,131–35,519,280, forward strandCEP250C20orf173: 35,523,186–35,529,652, reverse strandC20orf173ERGIC3: 35,542,022–35,557,634, forward strandERGIC3SPAG4: 35,615,594–35,621,613, forward strandSPAG4CPNE1: 35,626,031–35,664,962, reverse strandCPNE1: 35,632,340–35,674,544, reverse strandRBM12: 35,648,925–35,664,956, reverse strandRBM12NFS1: 35,668,052–35,699,376, reverse strandNFS1ROMO1: 35,699,228–35,703,939, forward strandROMO1RBM39: 35,701,347–35,742,312, reverse strandRBM39PHF20: 35,771,947–35,950,385, forward strandPHF20Diagram of GDF5: 2 exons on the reverse strand of chromosome 20Exon 2: 7 known disease-causing sitesExon 1: 6 known disease-causing sitesExon 2: 35,433,347–35,434,783, 1,437 basesExon 1: 35,437,298–35,438,228, 931 bases215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.4 kb of the gene's 4.9 kb; 1,506 of those bases code for the protein.

How a genome test reads GDF5

13

positions in GDF5 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 4.9 kb of GDF5, introns included, not only the 2.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GDF5 gene: growth differentiation factor 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/gdf5

Vancouver

Dante Labs. GDF5 gene: growth differentiation factor 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gdf5

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